Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.

doi:10.1371/journal.pgen.1009189

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Article

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.

PLoS genetics - 1 Nov 2020

Martin-Trujillo Alejandro, Patel Nihir, Richter Felix, Jadhav Bharati, Garg Paras, Morton Sarah U, McKean David M, DePalma Steven R, Goldmuntz Elizabeth, Gruber Dorota, Kim Richard, Newburger Jane W, Porter George A, Giardini Alessandro, Bernstein Daniel, Tristani-Firouzi Martin, Seidman Jonathan G, Seidman Christine E, Chung Wendy K, Gelb Bruce D, Sharp Andrew J

Abstract excerpt

Although DNA methylation is the best characterized epigenetic mark, the mechanism by which it is targeted to specific regions in the genome remains unclear. Recent studies have revealed that local DNA methylation profiles might be dictated by cis-regulatory DNA sequences that mainly operate via DNA-binding factors. Consistent with this finding, we have recently shown that disruption of CTCF-binding sites by rare...

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PMID: 33216750
DOI: 10.1371/journal.pgen.1009189
PMCID: PMC7679001

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CTCF

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